Incidental Mutation 'R1127:Nxn'
| ID |
96323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nxn
|
| Ensembl Gene |
ENSMUSG00000020844 |
| Gene Name |
nucleoredoxin |
| Synonyms |
l11Jus13 |
| MMRRC Submission |
039200-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1127 (G1)
|
| Quality Score |
156 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76148052-76289967 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 76164895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 205
(C205*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021204]
|
| AlphaFold |
P97346 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021204
AA Change: C205*
|
| SMART Domains |
Protein: ENSMUSP00000021204
Gene: ENSMUSG00000020844
AA Change: C205*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin_8
|
30 |
145 |
5.4e-23 |
PFAM |
|
Pfam:AhpC-TSA
|
173 |
290 |
4.7e-10 |
PFAM |
|
Pfam:Thioredoxin_2
|
189 |
296 |
7.1e-11 |
PFAM |
|
Pfam:Thioredoxin_8
|
193 |
287 |
3.7e-32 |
PFAM |
|
Pfam:Thioredoxin_6
|
236 |
424 |
8.4e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 80.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice die by P1 and exhibit craniofacial bone defects and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
C |
15: 79,019,403 (GRCm39) |
D179G |
probably benign |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,659,314 (GRCm39) |
E256K |
probably benign |
Het |
| Adh7 |
C |
T |
3: 137,927,490 (GRCm39) |
A12V |
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,767,399 (GRCm39) |
N1179K |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,511,336 (GRCm39) |
T344A |
probably benign |
Het |
| Aplf |
T |
C |
6: 87,623,273 (GRCm39) |
T269A |
probably benign |
Het |
| Cavin4 |
T |
C |
4: 48,663,637 (GRCm39) |
S6P |
probably damaging |
Het |
| Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
| Cyp2c66 |
A |
T |
19: 39,151,812 (GRCm39) |
N176Y |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,522,253 (GRCm39) |
D3980V |
probably damaging |
Het |
| Drc7 |
G |
T |
8: 95,799,416 (GRCm39) |
E530D |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,314,358 (GRCm39) |
T6434A |
probably damaging |
Het |
| Dtx3l |
A |
G |
16: 35,759,127 (GRCm39) |
S41P |
possibly damaging |
Het |
| Eef1b2 |
G |
A |
1: 63,218,616 (GRCm39) |
|
probably null |
Het |
| Eml3 |
C |
T |
19: 8,913,672 (GRCm39) |
T43I |
probably damaging |
Het |
| Fam110b |
T |
A |
4: 5,799,434 (GRCm39) |
L284Q |
probably damaging |
Het |
| Gpr33 |
A |
C |
12: 52,070,252 (GRCm39) |
H262Q |
probably damaging |
Het |
| Igfals |
T |
G |
17: 25,099,455 (GRCm39) |
L182R |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,126,205 (GRCm39) |
F496L |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,569,343 (GRCm39) |
H134Q |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Oga |
G |
A |
19: 45,740,594 (GRCm39) |
R914* |
probably null |
Het |
| Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
| Or52h9 |
C |
A |
7: 104,202,293 (GRCm39) |
H56N |
possibly damaging |
Het |
| Pamr1 |
A |
T |
2: 102,469,698 (GRCm39) |
I415F |
possibly damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,545,327 (GRCm39) |
G200E |
probably damaging |
Het |
| Pramel29 |
G |
A |
4: 143,933,694 (GRCm39) |
T471I |
probably damaging |
Het |
| Prdm16 |
C |
A |
4: 154,613,256 (GRCm39) |
S57I |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,362,410 (GRCm39) |
K157R |
possibly damaging |
Het |
| Ptprn2 |
G |
A |
12: 117,175,628 (GRCm39) |
|
probably null |
Het |
| Pus7 |
G |
A |
5: 23,973,793 (GRCm39) |
H234Y |
probably benign |
Het |
| Rd3l |
A |
G |
12: 111,946,717 (GRCm39) |
Y20H |
probably benign |
Het |
| Stk31 |
A |
G |
6: 49,386,141 (GRCm39) |
D160G |
probably damaging |
Het |
| Sycp2 |
C |
T |
2: 178,016,159 (GRCm39) |
E768K |
possibly damaging |
Het |
| Tango6 |
T |
C |
8: 107,415,527 (GRCm39) |
V116A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,697,574 (GRCm39) |
|
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Xylb |
T |
C |
9: 119,212,443 (GRCm39) |
I427T |
probably damaging |
Het |
| Zc3h7a |
T |
G |
16: 10,956,939 (GRCm39) |
D890A |
probably damaging |
Het |
|
| Other mutations in Nxn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Nxn
|
APN |
11 |
76,165,481 (GRCm39) |
splice site |
probably benign |
|
|
IGL01780:Nxn
|
APN |
11 |
76,165,480 (GRCm39) |
splice site |
probably benign |
|
|
IGL02350:Nxn
|
APN |
11 |
76,165,480 (GRCm39) |
splice site |
probably benign |
|
|
IGL02357:Nxn
|
APN |
11 |
76,165,480 (GRCm39) |
splice site |
probably benign |
|
|
IGL02423:Nxn
|
APN |
11 |
76,164,858 (GRCm39) |
missense |
probably benign |
0.13 |
|
Charleston
|
UTSW |
11 |
76,153,974 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Flapper
|
UTSW |
11 |
76,169,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Nxn
|
UTSW |
11 |
76,164,863 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB016:Nxn
|
UTSW |
11 |
76,164,863 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0098:Nxn
|
UTSW |
11 |
76,169,420 (GRCm39) |
splice site |
probably benign |
|
|
R0456:Nxn
|
UTSW |
11 |
76,153,963 (GRCm39) |
nonsense |
probably null |
|
|
R1473:Nxn
|
UTSW |
11 |
76,154,013 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1681:Nxn
|
UTSW |
11 |
76,163,290 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1917:Nxn
|
UTSW |
11 |
76,152,498 (GRCm39) |
splice site |
probably benign |
|
|
R1918:Nxn
|
UTSW |
11 |
76,152,498 (GRCm39) |
splice site |
probably benign |
|
|
R2010:Nxn
|
UTSW |
11 |
76,289,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4501:Nxn
|
UTSW |
11 |
76,165,438 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4827:Nxn
|
UTSW |
11 |
76,152,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5029:Nxn
|
UTSW |
11 |
76,165,356 (GRCm39) |
nonsense |
probably null |
|
|
R5078:Nxn
|
UTSW |
11 |
76,152,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6403:Nxn
|
UTSW |
11 |
76,289,846 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7088:Nxn
|
UTSW |
11 |
76,153,974 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7478:Nxn
|
UTSW |
11 |
76,152,378 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7642:Nxn
|
UTSW |
11 |
76,163,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Nxn
|
UTSW |
11 |
76,164,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7929:Nxn
|
UTSW |
11 |
76,164,863 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8397:Nxn
|
UTSW |
11 |
76,163,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Nxn
|
UTSW |
11 |
76,164,869 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9032:Nxn
|
UTSW |
11 |
76,169,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Nxn
|
UTSW |
11 |
76,169,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9173:Nxn
|
UTSW |
11 |
76,149,560 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9725:Nxn
|
UTSW |
11 |
76,169,362 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0062:Nxn
|
UTSW |
11 |
76,153,978 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAAAGACACCTGTGTAAGCCG -3'
(R):5'- AGTAAATGCTCATGCTGCCAGTGAC -3'
Sequencing Primer
(F):5'- ACACCTGTGTAAGCCGTTACTG -3'
(R):5'- ATTTCTCAGGCTCCGAAAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation